In recent years, genetic information has become increasingly available through research efforts such as this Human Genome Project. Currently, there are clinical diagnostic tests for more than 900 genes. Each gene may have multiple identified mutations. As the results of the Human Genome Project are used to identify additional genes involved in disease or clinical response, the number of clinically relevant gene targets for diagnostic testing will increase significantly. Furthermore, the increasing use of DNA sequencing as a diagnostic tool will lead to identification of more mutations.
The Human Genome Association (HUGO) has published a standard approach for describing DNA mutations. However, this standard has not been widely adopted. Many clinicians and researchers use approaches to describe mutations that differ from this published standard. Their approach is considered a user-preferred standard and has meaning within their group but differs from the published standard of HUGO.
While there are known programs that document mutation results, these programs do not store templates describing one or more standards nor do these programs use templates to store and present discrete values captured during the documentation of mutation observations.
Accordingly, there is a need for a system and method for documenting mutation observation and mutation results so the observations and results can be presented using published standards or user-preferred standards. There is also a need for a system and method of documenting mutations that flexibly and efficient exchanges and aggregates mutation data.